ClinVar Miner

List of variants studied for Dent disease by Baylor Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe) rs760751280 0.00014
NM_000276.4(OCRL):c.1656C>T (p.Arg552=) rs761645724 0.00001
NM_000276.4(OCRL):c.934A>G (p.Lys312Glu) rs1936141520
NM_000276.4(OCRL):c.940-11G>A rs776743373
NM_001127898.4(CLCN5):c.344G>A (p.Trp115Ter) rs1569540047
NM_001127898.4(CLCN5):c.667del (p.Ala224fs)
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) rs151340626

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